1) What type of chromosome abnormality does the father have? a)Duplication b)Inversion c)Deletion d)Translocation

Human Anatomy & Physiology (11th Edition)
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1)

What type of chromosome abnormality does the father have?

a)Duplication

b)Inversion

c)Deletion

d)Translocation

 

2)

Why does the father have a normal phenotype?

a) Because the translocation was reciprocal.
b) Because he has one wild-type copy of each chromosome.
c) Because the translocation occurred only in the father's gametes.
d) Because no genes are missing.
 
 
A healthy couple with a history of previous spontaneous abortions just had a child with cri du chat syndrome—a disease caused by one copy of a deletion of the end of chromosome 5. Their physician orders karyotype analysis of both parents and the child. The karyotype results for chromosome 5 and 12 are shown below.

**Karyotype Analysis:**

- **Mother:**
  - Chromosome 5: Both copies appear normal, with no deletions.
  - Chromosome 12: Both copies appear normal.

- **Father:**
  - Chromosome 5: Both copies appear normal, with no deletions.
  - Chromosome 12: Both copies appear normal.

- **Child:**
  - Chromosome 5: One copy shows a deletion at the end, indicating the genetic abnormality associated with cri du chat syndrome.
  - Chromosome 12: Both copies appear normal.

This karyotype analysis reveals that the child has a deletion on chromosome 5, responsible for cri du chat syndrome, while the parents show normal karyotypes for the chromosomes in question.
Transcribed Image Text:A healthy couple with a history of previous spontaneous abortions just had a child with cri du chat syndrome—a disease caused by one copy of a deletion of the end of chromosome 5. Their physician orders karyotype analysis of both parents and the child. The karyotype results for chromosome 5 and 12 are shown below. **Karyotype Analysis:** - **Mother:** - Chromosome 5: Both copies appear normal, with no deletions. - Chromosome 12: Both copies appear normal. - **Father:** - Chromosome 5: Both copies appear normal, with no deletions. - Chromosome 12: Both copies appear normal. - **Child:** - Chromosome 5: One copy shows a deletion at the end, indicating the genetic abnormality associated with cri du chat syndrome. - Chromosome 12: Both copies appear normal. This karyotype analysis reveals that the child has a deletion on chromosome 5, responsible for cri du chat syndrome, while the parents show normal karyotypes for the chromosomes in question.
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